Novel Mutations in  the TAZ Gene in  Patients with Barth Syndrome

Novel Mutations in  the TAZ Gene in  Patients with Barth Syndrome

Barth syndrome is an X-linked recessive disorder that is caused by mutations in  Taffazin gene (TAZ), leading to severe cardiolipin deficiency which results in respiratory chain dysfunction. Barth syndrome is characterized by cardiomyopathy, neutropenia, skeletal myopathy, growth deficiency and 3-me...

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Bibliographic Details
Main Authors: S. Mazurová, M. Tesařová, M. Magner, H. Houšťková, H. Hansíková, J. Augustínová, V. Tomek,  A. Vondráčková, J. Zeman, Tomáš Honzík
Format: Article
Language:English
Published: Karolinum Press 2013-01-01
Series:Prague Medical Report
Subjects:
Barth syndrome
Cardiomyopathy
Growth failure
Neutropenia
3-methylglutaconic aciduria
Online Access:https://pmr.lf1.cuni.cz/114/3/0139/

Internet

https://pmr.lf1.cuni.cz/114/3/0139/

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